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Stefan Zimmerman

Interview with Anna Wedell

Anna Wedell is one of the keynote speakers at MYiHealth and we had the opportunity for an interview with her.

The title of your talk is called "Whole genome sequencing in clinical medicine in the era of Big Data". What is it specifically you're going to highlight?
There are several thousand different rare diseases due to injuries in a single gene. Finding this injury is like looking for a needle in a haystack. Until recently, we could not explore more than a fraction of all genes of our patients, and we had to analyze them one at a time, which required both time and money.
Today we have instead the ability to quickly analyze the entire genome of any known disease genes at once in our patients. It has revolutionized the diagnosis, but also places great demands on the new approach and the adaptation of new large-scale methods of care requirements. There must be quality throughout the process, and you have to restrict the analyzes to what is relevant for each individual patient.

Sequencing DNA has been used for a while, but what's the difference now combined with access to Big Data?
New methods make it possible to analyze the whole genome at once instead of one small piece at a time.

Obviously digitizing helps doctors and researchers, but how does it benefit the patient?
Patients with rare hereditary disorders can now get the right diagnosis early in the course of the disease. It provides the ability to quickly launch individualized treatment, which can prevent serious injury or even death.

A while back you´ve focused on diagnose unknown diseases. What are the biggest challenges in this work?
It takes an interdisciplinary approach to detect new diseases with the help of large-scale analyzes. We must be able to interpret the vast amounts of data, and we have to put them in relation to other information we have about our patients not to draw the wrong conclusions. Therefore, we must establish an entirely new approach where we work across borders and integrate new technology, experimental research and clinical medicine from different specialties. Also we need to develop methods to share data in the form of cooperation. Everything must be done with high quality in all aspects of the process.

Finally, what are your future plans and visions?
The new genetics involves a leap - we have unprecedented opportunities to make precise diagnoses in patients with hereditary diseases. It also means that we have the knowledge of the exact molecular mechanisms underlying their disease. We get new knowledge about how the body works and why we get sick. This gives us new ideas for developing new treatments.
We are still only at the beginning of this development, the development of knowledge is extremely intense right now and we will gradually be able to spread the methodology to more and more areas of disease.
I hope to see great opportunities to understand and treat diseases where we currently have insufficient knowledge and inadequate methods to help our patients.

Anna Wedell's biography »